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Oocyte maturation defect 11(OOMD11; OZEMA11)

MedGen UID:
1794243
•Concept ID:
C5562033
•
Disease or Syndrome
Synonyms: OOCYTE MATURATION DEFECT 11; OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11; OOMD11; OZEMA11
 
Gene (location): ASTL (2q11.2)
 
Monarch Initiative: MONDO:0030490
OMIM®: 619643

Definition

Oocyte/zygote/embryo maturation arrest-11 (OZEMA11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Oocytes with multiple sperm heads and multiple pronuclei have been observed after overnight in vitro fertilization (Maddirevula et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Fertility in men with cystic fibrosis assessment, investigations and management.
Smith HC
Paediatr Respir Rev 2010 Jun;11(2):80-3. Epub 2010 Mar 12 doi: 10.1016/j.prrv.2010.01.003. PMID: 20416542

Recent clinical studies

Etiology

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis.
Zhang L, Sun X, Wang R, Ma F
Front Public Health 2023;11:1151999. Epub 2023 Apr 3 doi: 10.3389/fpubh.2023.1151999. PMID: 37077193Free PMC Article
The effect of sperm DNA fragmentation on ICSI outcomes depending on oocyte quality.
Braga DPAF, Setti A, Morishima C, Provenza RR, Iaconelli A Jr, Borges E Jr
Andrology 2023 Nov;11(8):1682-1693. Epub 2023 Apr 28 doi: 10.1111/andr.13435. PMID: 37004191
Live births after oocyte in vitro maturation with a prematuration step in women with polycystic ovary syndrome.
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article
Pregnancy and neonatal outcomes of small follicle-derived blastocyst transfer in modified natural cycle in vitro fertilization.
Teramoto S, Osada H, Sato Y, Shozu M
Fertil Steril 2019 Apr;111(4):747-752. Epub 2019 Feb 28 doi: 10.1016/j.fertnstert.2018.11.038. PMID: 30826114

Diagnosis

Obese outbred mice only partially benefit from diet normalization or calorie restriction as preconception care interventions to improve metabolic health and oocyte quality.
Smits A, Marei WFA, Moorkens K, Bols PEJ, De Neubourg D, Leroy JLMR
Hum Reprod 2022 Nov 24;37(12):2867-2884. doi: 10.1093/humrep/deac226. PMID: 36342870
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Premature formation of nucleolar channel systems indicates advanced endometrial maturation following controlled ovarian hyperstimulation.
Zapantis G, Szmyga MJ, Rybak EA, Meier UT
Hum Reprod 2013 Dec;28(12):3292-300. Epub 2013 Sep 18 doi: 10.1093/humrep/det358. PMID: 24052503Free PMC Article
Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy.
Bar-Ami S, Seibel MM, Pierce KE, Zilberstein M
Birth Defects Res A Clin Mol Teratol 2003 Nov;67(11):946-50. doi: 10.1002/bdra.10099. PMID: 14745933

Therapy

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
The effect of sperm DNA fragmentation on ICSI outcomes depending on oocyte quality.
Braga DPAF, Setti A, Morishima C, Provenza RR, Iaconelli A Jr, Borges E Jr
Andrology 2023 Nov;11(8):1682-1693. Epub 2023 Apr 28 doi: 10.1111/andr.13435. PMID: 37004191
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Live births after oocyte in vitro maturation with a prematuration step in women with polycystic ovary syndrome.
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article

Prognosis

Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours.
Fouks Y, Sheiman V, Goaz S, Malcov M, Hasson Y, Azem F
Reprod Biomed Online 2021 Oct;43(4):637-644. Epub 2021 Jul 22 doi: 10.1016/j.rbmo.2021.07.010. PMID: 34429254
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.
Struyk AF, Cannon SC
J Gen Physiol 2007 Jul;130(1):11-20. doi: 10.1085/jgp.200709755. PMID: 17591984Free PMC Article
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399

Clinical prediction guides

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
The effect of sperm DNA fragmentation on ICSI outcomes depending on oocyte quality.
Braga DPAF, Setti A, Morishima C, Provenza RR, Iaconelli A Jr, Borges E Jr
Andrology 2023 Nov;11(8):1682-1693. Epub 2023 Apr 28 doi: 10.1111/andr.13435. PMID: 37004191
Parental chest computerized tomography examination before IVF/ICSI has no impact on pregnancy and neonatal outcomes: a cohort study of 2680 fresh transfer cycles.
Wang L, Li L, Zhao Y, Xu B, Yue J, Zhang H, Jin L
BMC Pregnancy Childbirth 2022 Dec 26;22(1):965. doi: 10.1186/s12884-022-05297-4. PMID: 36572853Free PMC Article
Effect of GnRH analogues for pituitary suppression on oocyte morphology in repeated ovarian stimulation cycles.
Zanetti BF, Braga DPAF, Setti AS, Iaconelli A Jr, Borges E Jr
JBRA Assist Reprod 2020 Jan 30;24(1):24-29. doi: 10.5935/1518-0557.20190050. PMID: 31436072Free PMC Article
Human embryos from overweight and obese women display phenotypic and metabolic abnormalities.
Leary C, Leese HJ, Sturmey RG
Hum Reprod 2015 Jan;30(1):122-32. Epub 2014 Nov 12 doi: 10.1093/humrep/deu276. PMID: 25391239

Recent systematic reviews

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis.
Zhang L, Sun X, Wang R, Ma F
Front Public Health 2023;11:1151999. Epub 2023 Apr 3 doi: 10.3389/fpubh.2023.1151999. PMID: 37077193Free PMC Article

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